Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618156
http://purl.bioontology.org/ontology/OMIM/618156
Preferred Name

SQUALENE SYNTHASE DEFICIENCY
Synonyms
SQSD
NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SQSD
NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS
prefLabel
SQUALENE SYNTHASE DEFICIENCY
Gene Symbol
DGPT
SQSD
FDFT1
Scope Statement
Caused by mutation of the farnesyl-diphosphate farnesyltransferase 1 gene (FDFT1, 184420.0001) [MOLECULAR BASIS]
Phenotypic variability [MISCELLANEOUS]
Based on one report of 2 siblings and one unrelated boy (last curated October 2018) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU066026
http://purl.bioontology.org/ontology/OMIM/MTHU001605
http://purl.bioontology.org/ontology/OMIM/MTHU010506
http://purl.bioontology.org/ontology/OMIM/MTHU066020
http://purl.bioontology.org/ontology/OMIM/MTHU059174
http://purl.bioontology.org/ontology/OMIM/MTHU000780
http://purl.bioontology.org/ontology/OMIM/MTHU050617
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU051589
http://purl.bioontology.org/ontology/OMIM/MTHU057896
http://purl.bioontology.org/ontology/OMIM/MTHU001907
http://purl.bioontology.org/ontology/OMIM/MTHU066028
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU076849
http://purl.bioontology.org/ontology/OMIM/MTHU000146
http://purl.bioontology.org/ontology/OMIM/MTHU002513
http://purl.bioontology.org/ontology/OMIM/MTHU004136
http://purl.bioontology.org/ontology/OMIM/MTHU066024
http://purl.bioontology.org/ontology/OMIM/MTHU066027
http://purl.bioontology.org/ontology/OMIM/MTHU066019
http://purl.bioontology.org/ontology/OMIM/MTHU066029
http://purl.bioontology.org/ontology/OMIM/MTHU042911
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU040979
http://purl.bioontology.org/ontology/OMIM/MTHU066031
http://purl.bioontology.org/ontology/OMIM/MTHU066021
http://purl.bioontology.org/ontology/OMIM/MTHU025907
http://purl.bioontology.org/ontology/OMIM/MTHU024600
http://purl.bioontology.org/ontology/OMIM/MTHU066022
http://purl.bioontology.org/ontology/OMIM/MTHU066025
http://purl.bioontology.org/ontology/OMIM/MTHU066023
http://purl.bioontology.org/ontology/OMIM/MTHU009428
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tui
T047
Gene Locus
8p23.1-p22
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618156
Semantic type UMLS property
Has inheritance type
cui
C4748427
OMIM Entry Type
3
OMIM MimType Value
pound
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